Mitochondria Phenome Knowledgebase

Phenotypic Feature Cholestasis finds 16 Gene-Feature associations that are associated with 16 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADS 201470 Cholestasis intracanalicular cholestasis gastrointestinal 3571488
ATP7B 277900 Cholestasis cholestasis in bile canaliculi gastrointestinal 16381639 16416207
BCS1L 124000 Cholestasis intrahepatic cholestasis; canalicular cholestasis gastrointestinal 11528392 12910490
BCS1L 603358 Cholestasis intrahepatic gastrointestinal 9482441 12027811 12215968
CYP27A1 213700 Cholestasis neonatal cholestatic jaundice; marked gastrointestinal 12555943 14572142 15795599
DGUOK 251880 Cholestasis bile duct abnormal; proliferation; hypoplasia gastrointestinal 12205643 15639197 15883261 15887277 15964659 16263314
DLAT 109720 Cholestasis destruction; intraheptic bile ducts; bile acids elevated; cholestatic liver diseases gastrointestinal 7956610 8900092 10807520 14708897
DMPK 160900 Cholestasis gastrointestinal 9445543 16190971
ETFDH 231680 Cholestasis bile duct hypoplasia gastrointestinal 12815589
FECH 177000 Cholestasis canalicular gastrointestinal 8500787 8873010 9585598 9649563 16150949 16315313
FH 606812 Cholestasis bile duct abnormal; bile ductular proliferation; marked cholestasis gastrointestinal 2515378
GFM1 609060 Cholestasis gastrointestinal 15537906
HADHA 609016 Cholestasis cholestatic manifestations gastrointestinal 9003853 10352164 10518281 12162610
IVD 243500 Cholestasis gastrointestinal 10191353
MPV17 256810 Cholestasis gastrointestinal 10518083
POLG 203700 Cholestasis bile ductule proliferation gastrointestinal 15689359 16177225
SLC25A13 605814 Cholestasis intrahepatic; bile acids elevated; bile duct proliferation; neonatal intrahepatic cholestasis; biliary atresia gastrointestinal 11281457 11343052 11793471 11999983 12111366 12424587 14680984 15542392

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons